(Q46384487)

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Familial Alzheimer's disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein.

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Europe PubMed Central

PubMed publication ID

21 December 2017

http://europepmc.org/abstract/MED/15772361

Familial Alzheimer's disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

Alzheimer's disease

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7

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Bradley T Hyman

2 references

Europe PubMed Central

PubMed publication ID

21 December 2017

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

4

object named as

Matthew P Frosch

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

author name string

Oksana Berezovska

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

Alberto Lleo

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

Lauren D Herl

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

Edward A Stern

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

Brian J Bacskai

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

language of work or name

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publication date

1 March 2005

1 reference

Europe PubMed Central

PubMed publication ID

21 December 2017

http://europepmc.org/abstract/MED/15772361

Journal of Neuroscience

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

25

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

11

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

3009-3017

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

The biological and pathological function of the presenilin-1 Deltaexon 9 mutation is independent of its defect to undergo proteolytic processing

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Alzheimer-related gene presenilin 1 facilitates notch 1 in primary mammalian neurons

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cell surface presenilin-1 participates in the gamma-secretase-like proteolysis of Notch

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Presenilin structure, function and role in Alzheimer disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aspartate mutations in presenilin and gamma-secretase inhibitors both impair notch1 proteolysis and nuclear translocation with relative preservation of notch1 signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homodimerization of presenilin N-terminal fragments is affected by mutations linked to Alzheimer's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Presenilin, Notch, and the genesis and treatment of Alzheimer's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PS1 N- and C-terminal fragments form a complex that functions in APP processing and Notch signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A subset of NSAIDs lower amyloidogenic Abeta42 independently of cyclooxygenase activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interaction with telencephalin and the amyloid precursor protein predicts a ring structure for presenilins

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

APH-1 is a multipass membrane protein essential for the Notch signaling pathway in Caenorhabditis elegans embryos

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activity-dependent isolation of the presenilin- gamma -secretase complex reveals nicastrin and a gamma substrate

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Presenilin and nicastrin regulate each other and determine amyloid beta-peptide production via complex formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gamma-secretase-mediated proteolysis in cell-surface-receptor signalling

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dimerization of presenilin-1 in vivo: suggestion of novel regulatory mechanisms leading to higher order complexes

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Amyloid precursor protein associates with a nicastrin-dependent docking site on the presenilin 1-gamma-secretase complex in cells demonstrated by fluorescence lifetime imaging.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fluorescence resonance energy transfer determinations using multiphoton fluorescence lifetime imaging microscopy to characterize amyloid-beta plaques

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A presenilin dimer at the core of the gamma-secretase enzyme: insights from parallel analysis of Notch 1 and APP proteolysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Activated Notch1 associates with a presenilin‐1/γ‐secretase docking site

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical, pathological, and biochemical spectrum of Alzheimer disease associated with PS-1 mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional implications of the presenilin dimerization: reconstitution of gamma-secretase activity by assembly of a catalytic site at the dimer interface of two catalytically inactive presenilins

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nonsteroidal anti-inflammatory drugs lower Abeta42 and change presenilin 1 conformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta-amyloid precursor protein of Alzheimer disease occurs as 110- to 135-kilodalton membrane-associated proteins in neural and nonneural tissues.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Membrane topology of the C. elegans SEL-12 presenilin

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein topology of presenilin 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for phosphorylation and oligomeric assembly of presenilin 1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Presenilin Proteins Undergo Heterogeneous Endoproteolysis between Thr291and Ala299and Occur as Stable N- and C-Terminal Fragments in Normal and Alzheimer Brain Tissue

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The proteolytic fragments of the Alzheimer's disease-associated presenilin-1 form heterodimers and occur as a 100-150-kDa molecular mass complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Additional evidence for an eight-transmembrane-domain topology for Caenorhabditis elegans and human presenilins

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The cell biology of beta-amyloid precursor protein and presenilin in Alzheimer's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15772361

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.0364-05.2005

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6725136&resulttype=core&format=json

12 May 2020

ResearchGate publication ID

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